Purification and structural analysis of extracellular matrix of a skin tumor from a patient with juvenile hyaline fibromatosis.

Juvenile hyaline fibromatosis is a rare mesenchymal dysplasia that is inherited in an autosomal recessive fashion. The histological features of the tumor-like lesions are characterized by the deposition of amorphous hyaline material in the extracellular spaces of the dermis and soft tissues. We have analyzed the hyaline substance in a specimen of a skin tumor obtained from a 4-year-old Japanese girl with juvenile hyaline fibromatosis. It was found to consist mainly of type VI collagen; a small amount of type I collagen was also present. These components were separated by DEAE-cellulose ion-exchange chromatography under reducing conditions. The ratio of the dry weights of type I and type VI collagen was 1:4. Of the three chains of type VI collagen (alpha 1(VI), alpha 2(VI) and alpha 3(VI)), alpha 3(VI) was the most abundant. Glycosaminoglycans in the tumor tissue comprised dermatan sulfate, chondroitin sulfate and hyaluronan, with dermatan sulfate predominating. In contrast, hyaluronan is the most abundant in normal skin.